Multiple acyl-CoA dehydrogenase deficiency

MONDO:0009282

A disorder of fatty acid and amino acid oxidation, caused by mutations in ETFDH, ETFA, or ETFB, and is a clinically heterogeneous disorder ranging from a severe neonatal presentation with metabolic acidosis, cardiomyopathy and liver disease, to a mild childhood/adult disease with episodic metabolic decompensation, muscle weakness, and respiratory failure.

Also known as: Glutaric Aciduria Type II, MAD deficiency, MADD, electron transfer flavoprotein deficiency, glutaric acidemia type 2, glutaric acidemia type II, glutaric aciduria type 2, glutaric aciduria, type 2

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